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Daniela Verrigni

Showing results (21-30 of 33) with videos related to

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International Journal of Molecular Sciences|July 27, 2024
De Novo <i>DNM1L</i> Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory VomitingBeatrice Berti, Daniela Verrigni, Alessia Nasca, et al.
Journal of Neurology|October 28, 2016
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypesAlessandra Torraco, Anna Ardissone, Federica Invernizzi, et al.
Neurobiology of Disease|April 29, 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assemblyMichela Di Nottia, Maria Marchese, Daniela Verrigni, et al.
Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.
Epilepsia|July 17, 2025
Epilepsy expands the phenotype of L-arginine:glycine amidinotransferase deficiencyAlessandro Ferretti, Roberta Battini, Olga Gagliardo, et al.
Journal of Clinical Medicine|March 7, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 <i>NPC1</i> Novel VariantsAndrea Dardis, Stefania Zampieri, Cinzia Gellera, et al.
Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.
Brain Communications|April 2, 2026
Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-associated mitochondrial diseaseAlessandra Torraco, Charlotte L Alston, Giulia Barcia, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 21, 2017
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiencyDariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, et al.
American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
International Journal of Molecular Sciences|July 27, 2024
De Novo <i>DNM1L</i> Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory VomitingBeatrice Berti, Daniela Verrigni, Alessia Nasca, et al.
Journal of Neurology|October 28, 2016
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypesAlessandra Torraco, Anna Ardissone, Federica Invernizzi, et al.
Neurobiology of Disease|April 29, 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assemblyMichela Di Nottia, Maria Marchese, Daniela Verrigni, et al.
Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.
Epilepsia|July 17, 2025
Epilepsy expands the phenotype of L-arginine:glycine amidinotransferase deficiencyAlessandro Ferretti, Roberta Battini, Olga Gagliardo, et al.
Journal of Clinical Medicine|March 7, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 <i>NPC1</i> Novel VariantsAndrea Dardis, Stefania Zampieri, Cinzia Gellera, et al.
Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.
Brain Communications|April 2, 2026
Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-associated mitochondrial diseaseAlessandra Torraco, Charlotte L Alston, Giulia Barcia, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 21, 2017
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiencyDariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, et al.
American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.
Pageof 4